Cells as a model system to study Neuromuscular Disorders
Research type
Research Study
Full title
The use of cells as a model system to study pathogenesis and therapeutic strategies for Neuromuscular Disorders
IRAS ID
141100
Contact name
Francesco Muntoni
Contact email
Research summary
We are making this REC application as we need consent for a laboratory-based study. We wish to use human cells that have undergone at least 4 divisions in vitro, which are non-relevant under the Human Tissue Act. But we will obtain these cells from the MRC Centre for Neuromuscular Diseases Biobank (REC ref 06/Q0406/33), which has a clause saying that samples can only be released to ethically-approved projects. We are therefore applying for a proportionate review.
Primary neuromuscular disorders are a heterogenous group of disorders, mostly genetically determined, characterised by infantile, childhood or adult onset of progressive muscle weakness and wasting often leading to progressive disability and decreased survival. Common childhood variants are Duchenne muscular dystrophy, congenital muscular dystrophies, congenital myopathies and spinal muscular atrophy.
Our aims are to: better understand muscle stem cell dysfunction in neuromuscular disorders at the molecular and protein level; investigate novel therapies that could be eventually used to cure them; explore the molecular mechanisms of novel genetic defects in muscle function.
We will use cells (derived from tissues such as muscle, synovium, skin, nerve or blood, but not excluding other sources) from patients with and without diagnosis of a variety of neuromuscular disorders and from controls, without neuromuscular disorders.
Cells will be used in laboratory studies on criteria that may influence their behaviour in vitro and their regenerative capacity in vivo e.g. their survival, proliferation, migration, differentiation and self-renewal.
We may also derive from these cells immortalised cell lines, myogenic cells, induced pluripotent stem cells, and/or 3-D models of skeletal muscle in tissue culture, which will be used in our laboratory studies.
Cells will be used to test potential therapies, such as antisense-mediated exon skipping, restoration of key genes and manipulation of signalling pathways.
REC name
London - Stanmore Research Ethics Committee
REC reference
13/LO/1826
Date of REC Opinion
22 Nov 2013
REC opinion
Favourable Opinion